On the long road to diagnosis

Considering that I've already written about my experience of the gastrointestinal complications of EDS, you might not think that I could get much more personal... but you'd be wrong!

I want to outline my path to my formal diagnosis of EDS-HM. Anybody who has been on this road for any length of time will understand why it's so personal. That said, it's a long story that I'm going to cut significantly short. Forgive the brevity!

Age 12, I experienced a very hasty decline into disability. Everything hurt! It was scary, and no doctors knew what was wrong. I felt like a never ending real-life episode of House. GPs, paediatricians, neurologists, orthopaedic surgeons, podiatrists, gait analysts, physiotherapists, rheumatologists, osteopaths, chiropractors, McTimoney chiropractors, kinesiologists, nutritionists, homeopaths, Amatsu therapists, massage therapists, acupuncturists, neuro-linguistic programming, reflexologists, and at one point, a healer (seriously, we got desperate). That list is not even complete, but after a certain point, the names get muddled and drop off into the far reaches of your mind.

The result was a never ending chain of misdiagnoses, red herrings, and a hell of a lot of people insisting it was all in my head. Stepping back, we see it all so much more clearly now.

My symptoms up until that decline at the age of 12 were as you'd expect: a life long battle with my digestion, skin healing and bruising issues that were particularly noticeable because of what a clumsy child I was, a tendency to not pick my legs up properly, and an awkward gait.

As adolescence approached, my joints declined rapidly, almost overnight, and I became ill. Very ill. There are too many symptoms to go into detail here, but they involved Chronic Fatigue-like symptoms, severe joint pain that at times left me bed-bound (even on the strongest pain medication they allow 12 year olds to take), muscle spasms, Fibromyalgia.... you get the picture. This, combined with the other symptoms I presented with from birth, make total sense as EDS, but none of the countless specialists we saw mentioned it once.

After adolescence, the pain started to subside, with bad flare ups occurring only once every couple of months. I assumed the dark days were coming to a close, and began exercising with my new-found mobility in earnest. I built up a lot of strength in this time, and it is that muscle building that I put my good health in my early twenties down to. In the last couple of years, I've begun to decline again. Not quite so spectacularly as when I was 12, mind.

The psychological effect is significant. I've been down this road before, so knowing how bad it can get is enough to get me pretty down. It's different this time around though. Rather than being suddenly immobilised by my own body, I feel my joints wearing down, month on month. I'm getting clickier and crackier than I've ever been, and joints like my jaw, shoulder, ankle and knee have a habit of dislocating. It was in this state that I finally made an appointment to confirm my osteopath's suspicions that I had some form of EDS.

I was lucky enough to make an appointment with the man who has fought so hard to have EDS recognised in the past 40 years: Professor Rodney Grahame. He confirmed the diagnosis after 80 minutes of rigorous testing and never-ending questions.

Prof Grahame was matter of fact, and extremely to the point, but once he had got his enormous list of questions out of the way and began his examinations he softened a lot. There weren't many things that he asked that I was surprised about, but then, I'd done my research! His tests included checking for marfanoid habitus by measuring my arm span/height ratio, the lengths of my hands and feet, and checking the roof of my mouth for a high arch palette. Then there was the infamous Beighton test, which I passed with flying colours, as it were. He checked other joints across my body too, and concluded that I am, in fact, an owl, such is the insane flexibility of my neck.

He noted I have "hypermobility plus" in many joints, regular hypermobility elsewhere, and totally normal elbows (poor elbows didn't get the memo, evidently!). He essentially said I was a textbook EDS-HM patient, with pretty much most of the hallmarks: significant GI involvement, significant skin involvement, hypermobility and chronic pain, partial marfanoid habitus, autonomic dysfunction and a strong family history on my mother's side. My mum attended the appointment with me, and he directed a lot of questions towards her with regard to my early childhood and her own symptoms.

Coming out of that appointment, both Mum and I were a bundle of mixed emotions. One thing I knew for sure though: This diagnosis won't change the way I live my life. From 14 years of knowing my body and its limits, and coming up with my own coping strategies, a diagnosis is no big revelation for me... It simply opens doors for me to seek more specialised treatment.

What's your story? Every EDSer has one. I could write a book about mine – about the negativity from disbelieving family members and peers, about how my experience proved to me how resilient the human spirit really is, and how ultimately the pain of my teen years impacted my outlook on life for the better. Maybe some day I will find the words to talk about that element of EDS too, but for now, I'd love to hear your experience. Maybe we can fill a book with our stories. We're all gloriously different, aren't we?